CPB2-AS1

CPB2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 13:46052497-46161379

Links

ENSG00000235903 ∙ NCBI:100509894 ∙ ∙ HGNC:39898 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CPB2-AS1 gene.

• Inborn genetic diseases (20 variants)
• not provided (6 variants)
• Hereditary breast ovarian cancer syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CPB2-AS1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding	1		20	2	4	27
Total	1	0	20	2	4

Variants in CPB2-AS1

This is a list of pathogenic ClinVar variants found in the CPB2-AS1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
13-46053665-T-A		not specified	Likely benign (Jun 07, 2024)
13-46053671-A-G		CPB2-related disorder	Likely benign (Aug 14, 2019)
13-46053702-A-G		not specified	Uncertain significance (Feb 14, 2023)
13-46055768-T-C		not specified	Uncertain significance (Jan 20, 2023)
13-46055809-A-G		CPB2-related disorder	Benign (Oct 17, 2019)
13-46055831-C-T		not specified	Uncertain significance (Dec 07, 2022)
13-46055843-C-A		not specified	Uncertain significance (Jul 25, 2023)
13-46064691-G-A		CPB2-related disorder	Benign (Nov 19, 2019)
13-46064707-G-A		not specified	Uncertain significance (Jul 05, 2023)
13-46064709-A-G			Likely benign (Apr 04, 2018)
13-46067331-A-G		CPB2-related disorder	Benign (Oct 17, 2019)
13-46067346-T-C		CPB2-related disorder	Benign (Oct 16, 2019)
13-46067399-TC-T		CPB2-related disorder	Uncertain significance (Jul 30, 2024)
13-46073912-T-C		CPB2-related disorder	Likely benign (Jun 18, 2019)
13-46073959-C-T		CPB2-related disorder	Benign (Oct 17, 2019)
13-46078860-A-G			Benign (Jul 16, 2018)
13-46078900-A-G		not specified	Uncertain significance (Dec 09, 2023)
13-46082472-G-A		not specified	Uncertain significance (Jul 14, 2023)
13-46082476-C-A		not specified	Likely benign (Oct 20, 2023)
13-46082511-T-C		not specified	Uncertain significance (Mar 15, 2024)
13-46082534-A-G		CPB2-related disorder	Benign (Oct 16, 2019)
13-46084226-G-A		not specified	Uncertain significance (Jan 17, 2024)
13-46084238-C-T		not specified	Uncertain significance (Mar 05, 2024)
13-46084297-T-G		not specified	Uncertain significance (Aug 04, 2023)
13-46087824-G-C			Likely benign (Jul 16, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP